ArticleNPJ Parkinson's disease2025
Clinical and functional evidence for the pathogenicity of the LRRK2 p.Arg1067Gln variant.
Article in NPJ Parkinson's disease, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed.
- Addressing the Challenges of Translating LRRK2 Biology into Disease-Modifying Therapies: The LRRK2 Investigative Therapeutics Exchange Initiative.Movement disorders : official journal of the Movement Disorder Society · 2026Article
- Parkinson's disease genetics across diverse ancestries: an observational genetic study of causal and risk variants with translational implications.The Lancet. Neurology · 2026Observational
- Breaking barriers and fighting inequality in Parkinson's disease care: Personal reflections of movement disorders clinicians.Journal of Parkinson's disease · 2026Article
- Article
- Ex Vivo LRRK2 Activation in Asian G2385R and R1628P Variant Carriers and Idiopathic Parkinson's Disease.Movement disorders : official journal of the Movement Disorder Society · 2026Article
- Large-scale functional annotation establishes a reference framework for humanmedRxiv : the preprint server for health sciences · 2026Article
- The genetic spectrum of LRRK2 variants in Parkinson's disease: findings from a large Chinese cohort.NPJ Parkinson's disease · 2026Article
- Association of LRRK2 p.A419V with Parkinson's Disease in East Asians and analysis of age at onset.NPJ Parkinson's disease · 2026Article
- Article
- LRRK2 p.G2385R and p.R1628P variants in a multi-ethnic Asian Parkinson's Cohort: epidemiology and clinical insights.NPJ Parkinson's disease · 2025Article
- ThemedRxiv : the preprint server for health sciences · 2025Article
- The Global Landscape of Genetic Variation in Parkinson's disease: Multi-Ancestry Insights into Established Disease Genes and their Translational Relevance.medRxiv : the preprint server for health sciences · 2025Article
Corrections and comments
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Authors and funding
27 authors.
Funding
Abstract
LRRK2-related Parkinson's disease (LRRK2-PD) is the most frequent form of monogenic PD worldwide, with important therapeutic opportunities, exemplified by the advancement in LRRK2 kinase inhibition studies/trials. However, many LRRK2 variants, especially those found in underrepresented populations, remain classified as variants of uncertain significance (VUS). Leveraging on Malaysian, Singaporean, and mainland Chinese PD datasets (n = 4901), we describe 12 Chinese-ancestry patients harboring the LRRK2 p.Arg1067Gln variant, more than doubling the number of previously reported cases (total n = 23, 87% East Asian, mean age of onset: 53.9 years). We determine that this variant is enriched in East Asian PD patients compared to population controls (OR = 8.0, 95% CI: 3.0-20.9), and provide supportive data for its co-segregation with PD, albeit with incomplete penetrance. Utilizing established experimental workflows, this variant showed increased LRRK2 kinase activity, by ~2-fold compared to wildtype and higher than the p.Gly2019Ser variant. Taken together, p.Arg1067Gln should be reclassified from a VUS to pathogenic for causing LRRK2-PD.
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Registered trials
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